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Inflammaging

Id Subject Object Predicate Lexical cue
T1 0-133 Sentence denotes Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
T2 134-360 Sentence denotes Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants.
T3 361-748 Sentence denotes In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association.
T4 749-921 Sentence denotes A differential distribution of the rare and low-frequency NSVs of a gene in 2,461 BD cases compared with 2,458 controls indicated their collective association with disease.
T5 922-1248 Sentence denotes By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10(-5)), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10(-4)), were associated with BD.
T6 1249-1386 Sentence denotes In addition, damaging or rare damaging NOD2 variants were nominally significant across all three burden tests applied (P = 0.0063-0.045).
T7 1387-1627 Sentence denotes Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)).
T8 1628-1749 Sentence denotes The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis.
T1 0-133 Sentence denotes Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
T2 134-360 Sentence denotes Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants.
T3 361-748 Sentence denotes In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association.
T4 749-921 Sentence denotes A differential distribution of the rare and low-frequency NSVs of a gene in 2,461 BD cases compared with 2,458 controls indicated their collective association with disease.
T5 922-1248 Sentence denotes By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10(-5)), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10(-4)), were associated with BD.
T6 1249-1386 Sentence denotes In addition, damaging or rare damaging NOD2 variants were nominally significant across all three burden tests applied (P = 0.0063-0.045).
T7 1387-1627 Sentence denotes Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)).
T8 1628-1749 Sentence denotes The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23633568-0#46#65#gene4210 46-65 gene4210 denotes Mediterranean fever
23633568-0#84#104#gene7099 84-104 gene7099 denotes toll-like receptor 4
23633568-0#110#114#gene7099 110-114 gene7099 denotes TLR4
23633568-0#118#132#diseaseC0004943 118-132 diseaseC0004943 denotes Behçet disease
23633568-2#141#145#gene3586 502-506 gene3586 denotes IL10
23633568-2#195#200#gene8302 556-561 gene8302 denotes KLRC4
23633568-2#206#211#gene51752 567-572 gene51752 denotes ERAP1
23633568-2#270#274#gene3553 631-635 gene3553 denotes IL1B
23633568-2#276#281#gene3554 637-642 gene3554 denotes IL1R1
23633568-2#283#288#gene3557 644-649 gene3557 denotes IL1RN
23633568-2#290#295#gene114548 651-656 gene114548 denotes NLRP3
23633568-2#303#311#gene7132 664-672 gene7132 denotes TNFRSF1A
23633568-2#313#320#gene9051 674-681 gene9051 denotes PSTPIP1
23633568-2#322#327#gene834 683-688 gene834 denotes CASP1
23633568-2#329#335#gene29108 690-696 gene29108 denotes PYCARD
23633568-2#337#341#gene64127 698-702 gene64127 denotes NOD2
23633568-2#24#38#diseaseC0004943 385-399 diseaseC0004943 denotes Behçet disease
23633568-2#372#374#diseaseC0004943 733-735 diseaseC0004943 denotes BD
23633568-2#24#38#diseaseC0004943 385-399 diseaseC0004943 denotes Behçet disease
23633568-2#372#374#diseaseC0004943 733-735 diseaseC0004943 denotes BD
23633568-2#24#38#diseaseC0004943 385-399 diseaseC0004943 denotes Behçet disease
23633568-4#209#214#gene149233 1131-1136 gene149233 denotes IL23R
23633568-4#323#325#diseaseC0004943 1245-1247 diseaseC0004943 denotes BD
23633568-6#38#57#gene4210 1425-1444 gene4210 denotes Mediterranean fever
23633568-6#136#164#diseaseC0031069 1523-1551 diseaseC0031069 denotes familial Mediterranean fever
46#65#gene4210118#132#diseaseC0004943 23633568-0#46#65#gene4210 23633568-0#118#132#diseaseC0004943 associated_with Mediterranean fever,Behçet disease
84#104#gene7099118#132#diseaseC0004943 23633568-0#84#104#gene7099 23633568-0#118#132#diseaseC0004943 associated_with toll-like receptor 4,Behçet disease
110#114#gene7099118#132#diseaseC0004943 23633568-0#110#114#gene7099 23633568-0#118#132#diseaseC0004943 associated_with TLR4,Behçet disease
141#145#gene358624#38#diseaseC0004943 23633568-2#141#145#gene3586 23633568-2#24#38#diseaseC0004943 associated_with IL10,Behçet disease
141#145#gene3586372#374#diseaseC0004943 23633568-2#141#145#gene3586 23633568-2#372#374#diseaseC0004943 associated_with IL10,BD
141#145#gene358624#38#diseaseC0004943 23633568-2#141#145#gene3586 23633568-2#24#38#diseaseC0004943 associated_with IL10,Behçet disease
141#145#gene3586372#374#diseaseC0004943 23633568-2#141#145#gene3586 23633568-2#372#374#diseaseC0004943 associated_with IL10,BD
141#145#gene358624#38#diseaseC0004943 23633568-2#141#145#gene3586 23633568-2#24#38#diseaseC0004943 associated_with IL10,Behçet disease
195#200#gene830224#38#diseaseC0004943 23633568-2#195#200#gene8302 23633568-2#24#38#diseaseC0004943 associated_with KLRC4,Behçet disease
195#200#gene8302372#374#diseaseC0004943 23633568-2#195#200#gene8302 23633568-2#372#374#diseaseC0004943 associated_with KLRC4,BD
195#200#gene830224#38#diseaseC0004943 23633568-2#195#200#gene8302 23633568-2#24#38#diseaseC0004943 associated_with KLRC4,Behçet disease
195#200#gene8302372#374#diseaseC0004943 23633568-2#195#200#gene8302 23633568-2#372#374#diseaseC0004943 associated_with KLRC4,BD
195#200#gene830224#38#diseaseC0004943 23633568-2#195#200#gene8302 23633568-2#24#38#diseaseC0004943 associated_with KLRC4,Behçet disease
206#211#gene5175224#38#diseaseC0004943 23633568-2#206#211#gene51752 23633568-2#24#38#diseaseC0004943 associated_with ERAP1,Behçet disease
206#211#gene51752372#374#diseaseC0004943 23633568-2#206#211#gene51752 23633568-2#372#374#diseaseC0004943 associated_with ERAP1,BD
206#211#gene5175224#38#diseaseC0004943 23633568-2#206#211#gene51752 23633568-2#24#38#diseaseC0004943 associated_with ERAP1,Behçet disease
206#211#gene51752372#374#diseaseC0004943 23633568-2#206#211#gene51752 23633568-2#372#374#diseaseC0004943 associated_with ERAP1,BD
206#211#gene5175224#38#diseaseC0004943 23633568-2#206#211#gene51752 23633568-2#24#38#diseaseC0004943 associated_with ERAP1,Behçet disease
270#274#gene355324#38#diseaseC0004943 23633568-2#270#274#gene3553 23633568-2#24#38#diseaseC0004943 associated_with IL1B,Behçet disease
270#274#gene3553372#374#diseaseC0004943 23633568-2#270#274#gene3553 23633568-2#372#374#diseaseC0004943 associated_with IL1B,BD
270#274#gene355324#38#diseaseC0004943 23633568-2#270#274#gene3553 23633568-2#24#38#diseaseC0004943 associated_with IL1B,Behçet disease
270#274#gene3553372#374#diseaseC0004943 23633568-2#270#274#gene3553 23633568-2#372#374#diseaseC0004943 associated_with IL1B,BD
270#274#gene355324#38#diseaseC0004943 23633568-2#270#274#gene3553 23633568-2#24#38#diseaseC0004943 associated_with IL1B,Behçet disease
276#281#gene355424#38#diseaseC0004943 23633568-2#276#281#gene3554 23633568-2#24#38#diseaseC0004943 associated_with IL1R1,Behçet disease
276#281#gene3554372#374#diseaseC0004943 23633568-2#276#281#gene3554 23633568-2#372#374#diseaseC0004943 associated_with IL1R1,BD
276#281#gene355424#38#diseaseC0004943 23633568-2#276#281#gene3554 23633568-2#24#38#diseaseC0004943 associated_with IL1R1,Behçet disease
276#281#gene3554372#374#diseaseC0004943 23633568-2#276#281#gene3554 23633568-2#372#374#diseaseC0004943 associated_with IL1R1,BD
276#281#gene355424#38#diseaseC0004943 23633568-2#276#281#gene3554 23633568-2#24#38#diseaseC0004943 associated_with IL1R1,Behçet disease
283#288#gene355724#38#diseaseC0004943 23633568-2#283#288#gene3557 23633568-2#24#38#diseaseC0004943 associated_with IL1RN,Behçet disease
283#288#gene3557372#374#diseaseC0004943 23633568-2#283#288#gene3557 23633568-2#372#374#diseaseC0004943 associated_with IL1RN,BD
283#288#gene355724#38#diseaseC0004943 23633568-2#283#288#gene3557 23633568-2#24#38#diseaseC0004943 associated_with IL1RN,Behçet disease
283#288#gene3557372#374#diseaseC0004943 23633568-2#283#288#gene3557 23633568-2#372#374#diseaseC0004943 associated_with IL1RN,BD
283#288#gene355724#38#diseaseC0004943 23633568-2#283#288#gene3557 23633568-2#24#38#diseaseC0004943 associated_with IL1RN,Behçet disease
290#295#gene11454824#38#diseaseC0004943 23633568-2#290#295#gene114548 23633568-2#24#38#diseaseC0004943 associated_with NLRP3,Behçet disease
290#295#gene114548372#374#diseaseC0004943 23633568-2#290#295#gene114548 23633568-2#372#374#diseaseC0004943 associated_with NLRP3,BD
290#295#gene11454824#38#diseaseC0004943 23633568-2#290#295#gene114548 23633568-2#24#38#diseaseC0004943 associated_with NLRP3,Behçet disease
290#295#gene114548372#374#diseaseC0004943 23633568-2#290#295#gene114548 23633568-2#372#374#diseaseC0004943 associated_with NLRP3,BD
290#295#gene11454824#38#diseaseC0004943 23633568-2#290#295#gene114548 23633568-2#24#38#diseaseC0004943 associated_with NLRP3,Behçet disease
303#311#gene713224#38#diseaseC0004943 23633568-2#303#311#gene7132 23633568-2#24#38#diseaseC0004943 associated_with TNFRSF1A,Behçet disease
303#311#gene7132372#374#diseaseC0004943 23633568-2#303#311#gene7132 23633568-2#372#374#diseaseC0004943 associated_with TNFRSF1A,BD
303#311#gene713224#38#diseaseC0004943 23633568-2#303#311#gene7132 23633568-2#24#38#diseaseC0004943 associated_with TNFRSF1A,Behçet disease
303#311#gene7132372#374#diseaseC0004943 23633568-2#303#311#gene7132 23633568-2#372#374#diseaseC0004943 associated_with TNFRSF1A,BD
303#311#gene713224#38#diseaseC0004943 23633568-2#303#311#gene7132 23633568-2#24#38#diseaseC0004943 associated_with TNFRSF1A,Behçet disease
313#320#gene905124#38#diseaseC0004943 23633568-2#313#320#gene9051 23633568-2#24#38#diseaseC0004943 associated_with PSTPIP1,Behçet disease
313#320#gene9051372#374#diseaseC0004943 23633568-2#313#320#gene9051 23633568-2#372#374#diseaseC0004943 associated_with PSTPIP1,BD
313#320#gene905124#38#diseaseC0004943 23633568-2#313#320#gene9051 23633568-2#24#38#diseaseC0004943 associated_with PSTPIP1,Behçet disease
313#320#gene9051372#374#diseaseC0004943 23633568-2#313#320#gene9051 23633568-2#372#374#diseaseC0004943 associated_with PSTPIP1,BD
313#320#gene905124#38#diseaseC0004943 23633568-2#313#320#gene9051 23633568-2#24#38#diseaseC0004943 associated_with PSTPIP1,Behçet disease
322#327#gene83424#38#diseaseC0004943 23633568-2#322#327#gene834 23633568-2#24#38#diseaseC0004943 associated_with CASP1,Behçet disease
322#327#gene834372#374#diseaseC0004943 23633568-2#322#327#gene834 23633568-2#372#374#diseaseC0004943 associated_with CASP1,BD
322#327#gene83424#38#diseaseC0004943 23633568-2#322#327#gene834 23633568-2#24#38#diseaseC0004943 associated_with CASP1,Behçet disease
322#327#gene834372#374#diseaseC0004943 23633568-2#322#327#gene834 23633568-2#372#374#diseaseC0004943 associated_with CASP1,BD
322#327#gene83424#38#diseaseC0004943 23633568-2#322#327#gene834 23633568-2#24#38#diseaseC0004943 associated_with CASP1,Behçet disease
329#335#gene2910824#38#diseaseC0004943 23633568-2#329#335#gene29108 23633568-2#24#38#diseaseC0004943 associated_with PYCARD,Behçet disease
329#335#gene29108372#374#diseaseC0004943 23633568-2#329#335#gene29108 23633568-2#372#374#diseaseC0004943 associated_with PYCARD,BD
329#335#gene2910824#38#diseaseC0004943 23633568-2#329#335#gene29108 23633568-2#24#38#diseaseC0004943 associated_with PYCARD,Behçet disease
329#335#gene29108372#374#diseaseC0004943 23633568-2#329#335#gene29108 23633568-2#372#374#diseaseC0004943 associated_with PYCARD,BD
329#335#gene2910824#38#diseaseC0004943 23633568-2#329#335#gene29108 23633568-2#24#38#diseaseC0004943 associated_with PYCARD,Behçet disease
337#341#gene6412724#38#diseaseC0004943 23633568-2#337#341#gene64127 23633568-2#24#38#diseaseC0004943 associated_with NOD2,Behçet disease
337#341#gene64127372#374#diseaseC0004943 23633568-2#337#341#gene64127 23633568-2#372#374#diseaseC0004943 associated_with NOD2,BD
337#341#gene6412724#38#diseaseC0004943 23633568-2#337#341#gene64127 23633568-2#24#38#diseaseC0004943 associated_with NOD2,Behçet disease
337#341#gene64127372#374#diseaseC0004943 23633568-2#337#341#gene64127 23633568-2#372#374#diseaseC0004943 associated_with NOD2,BD
337#341#gene6412724#38#diseaseC0004943 23633568-2#337#341#gene64127 23633568-2#24#38#diseaseC0004943 associated_with NOD2,Behçet disease
209#214#gene149233323#325#diseaseC0004943 23633568-4#209#214#gene149233 23633568-4#323#325#diseaseC0004943 associated_with IL23R,BD
38#57#gene4210136#164#diseaseC0031069 23633568-6#38#57#gene4210 23633568-6#136#164#diseaseC0031069 associated_with Mediterranean fever,familial Mediterranean fever

DisGeNET

Id Subject Object Predicate Lexical cue
T0 502-506 gene:3586 denotes IL10
T1 385-399 disease:C0004943 denotes Behçet disease
T2 515-519 gene:1230 denotes CCR1
T3 385-399 disease:C0004943 denotes Behçet disease
T4 521-526 gene:6775 denotes STAT4
T5 385-399 disease:C0004943 denotes Behçet disease
T6 528-533 gene:100528032 denotes KLRK1
T7 385-399 disease:C0004943 denotes Behçet disease
T8 528-533 gene:22914 denotes KLRK1
T9 385-399 disease:C0004943 denotes Behçet disease
T10 535-540 gene:3821 denotes KLRC1
T11 385-399 disease:C0004943 denotes Behçet disease
T12 542-547 gene:3822 denotes KLRC2
T13 385-399 disease:C0004943 denotes Behçet disease
T14 549-554 gene:3823 denotes KLRC3
T15 385-399 disease:C0004943 denotes Behçet disease
T16 556-561 gene:8302 denotes KLRC4
T17 385-399 disease:C0004943 denotes Behçet disease
T18 556-561 gene:8302 denotes KLRC4
T19 733-735 disease:C0004943 denotes BD
T20 567-572 gene:51752 denotes ERAP1
T21 385-399 disease:C0004943 denotes Behçet disease
T22 567-572 gene:51752 denotes ERAP1
T23 733-735 disease:C0004943 denotes BD
T24 631-635 gene:3553 denotes IL1B
T25 385-399 disease:C0004943 denotes Behçet disease
T26 637-642 gene:3554 denotes IL1R1
T27 385-399 disease:C0004943 denotes Behçet disease
T28 644-649 gene:3557 denotes IL1RN
T29 385-399 disease:C0004943 denotes Behçet disease
T30 651-656 gene:114548 denotes NLRP3
T31 385-399 disease:C0004943 denotes Behçet disease
T32 664-672 gene:7132 denotes TNFRSF1A
T33 385-399 disease:C0004943 denotes Behçet disease
T34 674-681 gene:9051 denotes PSTPIP1
T35 385-399 disease:C0004943 denotes Behçet disease
T36 683-688 gene:834 denotes CASP1
T37 385-399 disease:C0004943 denotes Behçet disease
T38 690-696 gene:29108 denotes PYCARD
T39 385-399 disease:C0004943 denotes Behçet disease
T40 698-702 gene:64127 denotes NOD2
T41 385-399 disease:C0004943 denotes Behçet disease
T42 698-702 gene:64127 denotes NOD2
T43 733-735 disease:C0004943 denotes BD
T44 708-712 gene:7099 denotes TLR4
T45 385-399 disease:C0004943 denotes Behçet disease
T46 708-712 gene:7099 denotes TLR4
T47 733-735 disease:C0004943 denotes BD
R1 T0 T1 associated_with IL10,Behçet disease
R2 T2 T3 associated_with CCR1,Behçet disease
R3 T4 T5 associated_with STAT4,Behçet disease
R4 T6 T7 associated_with KLRK1,Behçet disease
R5 T8 T9 associated_with KLRK1,Behçet disease
R6 T10 T11 associated_with KLRC1,Behçet disease
R7 T12 T13 associated_with KLRC2,Behçet disease
R8 T14 T15 associated_with KLRC3,Behçet disease
R9 T16 T17 associated_with KLRC4,Behçet disease
R10 T18 T19 associated_with KLRC4,BD
R11 T20 T21 associated_with ERAP1,Behçet disease
R12 T22 T23 associated_with ERAP1,BD
R13 T24 T25 associated_with IL1B,Behçet disease
R14 T26 T27 associated_with IL1R1,Behçet disease
R15 T28 T29 associated_with IL1RN,Behçet disease
R16 T30 T31 associated_with NLRP3,Behçet disease
R17 T32 T33 associated_with TNFRSF1A,Behçet disease
R18 T34 T35 associated_with PSTPIP1,Behçet disease
R19 T36 T37 associated_with CASP1,Behçet disease
R20 T38 T39 associated_with PYCARD,Behçet disease
R21 T40 T41 associated_with NOD2,Behçet disease
R22 T42 T43 associated_with NOD2,BD
R23 T44 T45 associated_with TLR4,Behçet disease
R24 T46 T47 associated_with TLR4,BD

Allie

Id Subject Object Predicate Lexical cue
SS1_23633568_1_0 134-165 expanded denotes Genome-wide association studies
SS2_23633568_1_0 167-171 abbr denotes GWAS
SS1_23633568_2_0 385-399 expanded denotes Behçet disease
SS2_23633568_2_0 401-403 abbr denotes BD
SS1_23633568_2_1 406-428 expanded denotes nonsynonymous variants
SS2_23633568_2_1 430-434 abbr denotes NSVs
SS1_23633568_6_0 1425-1449 expanded denotes Mediterranean fever gene
SS2_23633568_6_0 1451-1455 abbr denotes MEFV
AE1_23633568_1_0 SS1_23633568_1_0 SS2_23633568_1_0 abbreviatedTo Genome-wide association studies,GWAS
AE1_23633568_2_0 SS1_23633568_2_0 SS2_23633568_2_0 abbreviatedTo Behçet disease,BD
AE1_23633568_2_1 SS1_23633568_2_1 SS2_23633568_2_1 abbreviatedTo nonsynonymous variants,NSVs
AE1_23633568_6_0 SS1_23633568_6_0 SS2_23633568_6_0 abbreviatedTo Mediterranean fever gene,MEFV

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 1439-1444 HP_0001945 denotes fever
T2 1546-1551 HP_0001945 denotes fever

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
23633568-6#79#88#geners28940577 1466-1475 geners28940577 denotes Met694Val
23633568-6#79#88#geners61752717 1466-1475 geners61752717 denotes Met694Val
23633568-6#79#88#geners28940577 1466-1475 geners28940577 denotes Met694Val
23633568-6#79#88#geners61752717 1466-1475 geners61752717 denotes Met694Val
23633568-6#136#164#diseaseC0031069 1523-1551 diseaseC0031069 denotes familial Mediterranean fever
23633568-6#176#178#diseaseC0004943 1563-1565 diseaseC0004943 denotes BD
79#88#geners28940577136#164#diseaseC0031069 23633568-6#79#88#geners28940577 23633568-6#136#164#diseaseC0031069 associated_with Met694Val,familial Mediterranean fever
79#88#geners28940577176#178#diseaseC0004943 23633568-6#79#88#geners28940577 23633568-6#176#178#diseaseC0004943 associated_with Met694Val,BD
79#88#geners61752717136#164#diseaseC0031069 23633568-6#79#88#geners61752717 23633568-6#136#164#diseaseC0031069 associated_with Met694Val,familial Mediterranean fever
79#88#geners61752717176#178#diseaseC0004943 23633568-6#79#88#geners61752717 23633568-6#176#178#diseaseC0004943 associated_with Met694Val,BD
79#88#geners28940577136#164#diseaseC0031069 23633568-6#79#88#geners28940577 23633568-6#136#164#diseaseC0031069 associated_with Met694Val,familial Mediterranean fever
79#88#geners28940577176#178#diseaseC0004943 23633568-6#79#88#geners28940577 23633568-6#176#178#diseaseC0004943 associated_with Met694Val,BD
79#88#geners61752717136#164#diseaseC0031069 23633568-6#79#88#geners61752717 23633568-6#136#164#diseaseC0031069 associated_with Met694Val,familial Mediterranean fever
79#88#geners61752717176#178#diseaseC0004943 23633568-6#79#88#geners61752717 23633568-6#176#178#diseaseC0004943 associated_with Met694Val,BD